نتایج جستجو برای: methylmalonic acidemia disorder
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BACKGROUND AND AIMS Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to de...
clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...
In mammalian cells, only two enzymes are known to require vitamin B12 (cobalamin, Cbl) derivatives as a cofactor: methionine synthase, a cytosolic enzyme, which uses methylcobalamin, and methylmalonyl-coenzyme A mutase (MCM), a mitochondrial enzyme, which uses 5’-deoxyadenosylcobalamin (AdoCbl) (1). The latter enzyme has a broad distribution among living organisms and is found in both bacteria ...
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